Source: ORPHANET

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 21
LMNA P02545 lamin A/C 1.00 0.384 0.885 15
PAX6 P26367 paired box 6 1.00 0.450 0.769 15
IDH2 P48735 isocitrate dehydrogenase (NADP(+)) 2 0.88 0.434 0.808 12
KRT1 P04264 keratin 1 0.74 0.575 0.654 12
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808 11
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 10
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 9
PRPH2 P23942 peripherin 2 0.12 0.551 0.500 9
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846 9
TET2 Q6N021 tet methylcytosine dioxygenase 2 4.3E-54 0.458 0.808 9
CRYBB2 P43320 crystallin beta B2 0.39 0.623 0.462 8
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 8
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808 8
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 8
CFH P08603 complement factor H 0.86 0.441 0.885 8
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 8
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923 8
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692 8
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 7
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 7
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731 7
CRYGD P07320 crystallin gamma D 3.0E-04 0.510 0.808 7
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808 7